A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy

MeSH terms

• Adult
• Asian People / genetics
• DNA Mutational Analysis
• Exons
• GTP Phosphohydrolases / genetics*
• Humans
• Male
• Mutation*
• Optic Atrophy, Autosomal Dominant / diagnosis
• Optic Atrophy, Autosomal Dominant / genetics*
• Pedigree
• Polymerase Chain Reaction
• Polymorphism, Single Nucleotide*
• Sequence Analysis, DNA
• Tomography, Optical Coherence
• Visual Acuity
• Visual Fields